|Institutional Source||Beutler Lab|
|Gene Name||fibroblast growth factor 20|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4613 (G1)|
|Chromosomal Location||40279166-40308331 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40286611 bp (GRCm38)|
|Amino Acid Change||Arginine to Glycine at position 33 (R33G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034014 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]|
AA Change: R33G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: R33G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fgf20||
(F):5'- TACCGAAGAGACTGTGATCCTG -3'
(R):5'- ACAGGGACCTCACAGGAGTAAC -3'
(F):5'- AGACTGTGATCCTGCCGGG -3'
(R):5'- GGCTATAATTTTTCTGCATTCGC -3'